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Article

CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.

Practical neurology - 1 Oct 2018

Lambe Jeffrey, Monaghan Bernadette, Munteanu Tudor, Redmond Janice

Abstract excerpt

Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome...

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Source

Identifiers

PMID: 29678961
DOI: 10.1136/practneurol-2017-001842

Genes

CAPN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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